P78367 (NKX32_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein Nkx-3.2

Alternative name(s):
Bagpipe homeobox protein homolog 1
Homeobox protein NK-3 homolog B

Gene names

Name:	NKX3-2
Synonyms:	BAPX1, NKX3B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	333 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus By similarity.
Subcellular location	Nucleus Probable.
Tissue specificity	Expressed at highest levels in cartilage, bone (osteosarcoma) and gut (small intestine and colon), whereas moderate expression is seen in trachea and brain. Expressed in visceral mesoderm and embryonic skeleton. Ref.5
Involvement in disease	Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) [MIM:613330]: A skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5
Sequence similarities	Belongs to the NK-3 homeobox family. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Disease	Dwarfism
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	determination of left/right symmetry Inferred from electronic annotation. Source: Compara embryonic skeletal system development Inferred from electronic annotation. Source: Compara intestinal epithelial cell development Inferred from electronic annotation. Source: Compara middle ear morphogenesis Inferred from electronic annotation. Source: Compara negative regulation of apoptotic process Inferred from electronic annotation. Source: Compara negative regulation of chondrocyte differentiation Inferred from sequence or structural similarity. Source: UniProtKB organ formation Inferred from electronic annotation. Source: Compara pancreas development Inferred from electronic annotation. Source: Compara skeletal system development Traceable author statement Ref.2. Source: ProtInc skeletal system morphogenesis Inferred from electronic annotation. Source: Compara spleen development Inferred from electronic annotation. Source: Compara transcription from RNA polymerase II promoter Traceable author statement Ref.2. Source: ProtInc
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 333	333	Homeobox protein Nkx-3.2		PRO_0000048947
Regions
	DNA binding	206 – 265	60	Homeobox
	Compositional bias	180 – 188	9	Poly-Gly
	Compositional bias	194 – 198	5	Poly-Glu
	Compositional bias	327 – 330	4	Poly-Ala

Sequences

	Sequence		Length	Mass (Da)
	P78367 [UniParc]. Last modified July 15, 1999. Version 2. Checksum: 8C406E188D27780B	FASTA	333	34,814
	10 20 30 40 50 60 MAVRGANTLT SFSIQAILNK KEERGGLAAP EGRPAPGGTA ASVAAAPAVC CWRLFGERDA 70 80 90 100 110 120 GALGGAEDSL LASPAGTRTA AGRTAESPEG WDSDSALSEE NESRRRCADA RGASGAGLAG 130 140 150 160 170 180 GSLSLGQPVC ELAASKDLEE EAAGRSDSEM SASVSGDRSP RTEDDGVGPR GAHVSALCSG 190 200 210 220 230 240 AGGGGGSGPA GVAEEEEEPA APKPRKKRSR AAFSHAQVFE LERRFNHQRY LSGPERADLA 250 260 270 280 290 300 ASLKLTETQV KIWFQNRRYK TKRRQMAADL LASAPAAKKV AVKVLVRDDQ RQYLPGEVLR 310 320 330 PPSLLPLQPS YYYPYYCLPG WALSTCAAAA GTQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe." Tribioli C., Lufkin T. Gene 203:225-233(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia." Yoshiura K., Murray J.C. Genomics 45:425-428(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"Bapx1: an evolutionary conserved homologue of the Drosophila bagpipe homeobox gene is expressed in splanchnic mesoderm and the embryonic skeleton." Tribioli C., Frasch M., Lufkin T. Mech. Dev. 65:145-162(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 206-265.
[5]	"Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia." Hellemans J., Simon M., Dheedene A., Alanay Y., Mihci E., Rifai L., Sefiani A., van Bever Y., Meradji M., Superti-Furga A., Mortier G. Am. J. Hum. Genet. 85:916-922(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SMMD, TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF005260 Genomic DNA. Translation: AAC39536.1. AF009801 mRNA. Translation: AAB82783.1. AF009802 Genomic DNA. Translation: AAB82784.1. BC111966 mRNA. Translation: AAI11967.1. U89845 Genomic DNA. Translation: AAB49696.1.
IPI	IPI00019228.
RefSeq	NP_001180.1. NM_001189.3.
UniGene	Hs.590927.
3D structure databases
ProteinModelPortal	P78367.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000371875.
PTM databases
PhosphoSite	P78367.
Polymorphism databases
DMDM	6016210.
Proteomic databases
PaxDb	P78367.
PRIDE	P78367.
Protocols and materials databases
DNASU	579.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000382438; ENSP00000371875; ENSG00000109705.
GeneID	579.
KEGG	hsa:579.
UCSC	uc003gmx.2. human.
Organism-specific databases
CTD	579.
GeneCards	GC04M013542.
HGNC	HGNC:951. NKX3-2.
HPA	HPA027564.
MIM	602183. gene. 613330. phenotype.
neXtProt	NX_P78367.
Orphanet	228387. Spondylo-megaepiphyseal-metaphyseal dysplasia.
PharmGKB	PA162397617.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG279137.
HOGENOM	HOG000231923.
HOVERGEN	HBG006689.
InParanoid	P78367.
KO	K09995.
OMA	PGGWDSD.
OrthoDB	EOG4CRM13.
PhylomeDB	P78367.
Gene expression databases
Bgee	P78367.
CleanEx	HS_NKX3-2.
Genevestigator	P78367.
GermOnline	ENSG00000109705. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	579.
NextBio	2363.
SOURCE	Search...

Entry information

Entry name

NKX32_HUMAN

Accession

Primary (citable) accession number: P78367
Secondary accession number(s): Q2M2I7

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	July 15, 1999
Last modified:	May 1, 2013
This is version 108 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.